An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Retinal vasculopathy with cerebral leukocencephalopathy and systemic manifestations (RVCL or RVCL-S, also previously known as retinal vasculopathy with cerebral leukodystrophy, RVCL; or cerebroretinal vasculopathy, CRV; or hereditary vascular retinopathy, HVR; or hereditary endotheliopathy, retinopathy, nephropathy, and stroke, HERNS) is an inherited condition resulting from a frameshift mutation in the C-terminal region of the TREX1 gene. This disease affects small blood vessels, leading to damage of multiple organs including but not limited to the retina and the white matter of the central nervous system. Patients with RVCL develop vision loss, brain lesions, strokes, brain atrophy, and dementia. Patients with RVCL also exhibit other organ involvement, including kidney, liver, gastrointe

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dbo:abstract
  • Retinal vasculopathy with cerebral leukocencephalopathy and systemic manifestations (RVCL or RVCL-S, also previously known as retinal vasculopathy with cerebral leukodystrophy, RVCL; or cerebroretinal vasculopathy, CRV; or hereditary vascular retinopathy, HVR; or hereditary endotheliopathy, retinopathy, nephropathy, and stroke, HERNS) is an inherited condition resulting from a frameshift mutation in the C-terminal region of the TREX1 gene. This disease affects small blood vessels, leading to damage of multiple organs including but not limited to the retina and the white matter of the central nervous system. Patients with RVCL develop vision loss, brain lesions, strokes, brain atrophy, and dementia. Patients with RVCL also exhibit other organ involvement, including kidney, liver, gastrointestinal tract, thyroid, and bone disease. Symptoms of RVCL commonly begin between ages 40 and 50, although sometimes disease onset occurs earlier or later. The overall prognosis is poor, and death can sometimes occur within 5 or 10 years of the first symptoms appearing, although patients sometimes live about 20 years after initial symptoms. Clinical trials are underway, as are efforts to develop personalized medicines for patients with RVCL. (en)
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  • 192315 (xsd:integer)
dbo:orpha
  • 247691
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  • 13774 (xsd:nonNegativeInteger)
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  • 1084687358 (xsd:integer)
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dbp:caption
  • Diagram depicts the mode of inheritance of this condition (en)
dbp:causes
  • This disease is inherited . (en)
dbp:diagnosis
  • Genetic testing confirming a C-terminal frameshift mutation between the exonuclease domain and transmembrane domain--on only one allele--of the TREX1 gene. (en)
dbp:duration
  • Lifelong (en)
dbp:field
  • Rheumatology, neurology, ophthalmology, genetics (en)
dbp:name
  • Retinal vasculopathy with cerebral leukocencephalopathy (en)
dbp:omim
  • 192315 (xsd:integer)
dbp:onset
  • Onset usually around age 35-55. (en)
dbp:orphanet
  • 247691 (xsd:integer)
dbp:synonyms
  • Retinal vasculopathy with cerebral leukoencephalopathy (en)
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dcterms:subject
rdf:type
rdfs:comment
  • Retinal vasculopathy with cerebral leukocencephalopathy and systemic manifestations (RVCL or RVCL-S, also previously known as retinal vasculopathy with cerebral leukodystrophy, RVCL; or cerebroretinal vasculopathy, CRV; or hereditary vascular retinopathy, HVR; or hereditary endotheliopathy, retinopathy, nephropathy, and stroke, HERNS) is an inherited condition resulting from a frameshift mutation in the C-terminal region of the TREX1 gene. This disease affects small blood vessels, leading to damage of multiple organs including but not limited to the retina and the white matter of the central nervous system. Patients with RVCL develop vision loss, brain lesions, strokes, brain atrophy, and dementia. Patients with RVCL also exhibit other organ involvement, including kidney, liver, gastrointe (en)
rdfs:label
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (en)
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foaf:depiction
foaf:isPrimaryTopicOf
foaf:name
  • Retinal vasculopathy with cerebral leukocencephalopathy (RVCL or RVCL-S) (en)
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